A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis  

作　　者：SHAO Cong TIAN Jun SHI Dong-hong YU Chun-xiao XU Chao WANG Lai-cheng GAO Ling ZHAO Jia-jun 

机构地区：[1]Department of Endocrinology and Metabolism, Provincial Hospital Affiliated to Shandong University, Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, Shandong 250021, China [2]Shandong Medical Imaging Research Institute, Jinan, Shandong 250021, China [3]Chromosome Biology Laboratory, Department of Gynaecology and Obstetrics, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, China [4]Department of Scientific Center, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, China [5]Department of Endocrinology and Metabolism, Weihai Hospital, Medical College of Qingdao University, Weihai, Shandong 264200, China

出　　处：《Chinese Medical Journal》2011年第10期1583-1585,共3页中华医学杂志（英文版）

基　　金：This study was supported by a grant from the National Natural Science Foundation of China （No. 81000039）.

摘　　要：Tricho-rhino-phalangeal syndrome （TRPS） was first reported in 1966. Although mutation of TRPS1 gene is considered to be responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum insulin-like growth factor （IGF）-1 level in this kind of patients is rare. Here, we report a patient with TRPS I （MIM 190350） presenting a novel mutation （1096insA） and abnormal changes of severe osteoporosis as well as low serum IGF-I level.Tricho-rhino-phalangeal syndrome （TRPS） was first reported in 1966. Although mutation of TRPS1 gene is considered to be responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum insulin-like growth factor （IGF）-1 level in this kind of patients is rare. Here, we report a patient with TRPS I （MIM 190350） presenting a novel mutation （1096insA） and abnormal changes of severe osteoporosis as well as low serum IGF-I level.

关 键 词：OSTEOPOROSIS tricho-rhino-phalangeal syndrome TRPS1 gene 

分 类 号：Z87[文化科学]